Rare Disease Library

Anonychia-microcephaly syndrome

Teebi-Kaurah syndrome

22q11.2 deletion syndrome

22q11DS · CATCH 22

3C syndrome

Craniocerebellocardiac dysplasia · Ritscher-Schinzel syndrome

3M syndrome

3-M syndrome · Yakut short stature syndrome

Acrofacial dysostosis, Kennedy-Teebi type

Kennedy-Teebi syndrome

Acropectorovertebral dysplasia

F syndrome

Antisynthetase syndrome

AS syndrome · Anti-Jo1 syndrome

Autosomal dominant intellectual disability-craniofacial dysmorphism-macrocephaly-hypotonia syndrome due to H1-4 mutation

H1-4-related neurodevelopmental disorder · Rahman syndrome

Autosomal recessive faciodigitogenital syndrome

Aarskog-like syndrome · Facio-digito-genital syndrome, Kuwait type

Autosomal recessive spastic paraplegia type 20

Childhood-onset spastic paraparesis-distal muscle wasting syndrome · SPG20

C syndrome

OTCS · Opitz C trigonocephaly

Cataract-nephropathy-encephalopathy syndrome

Crome syndrome

CK syndrome

X-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome

Congenital heart defect-ectodermal dysplasia- brachydactyly-telangiectasia syndrome

Telangiectasia-ectodermal dysplasia-brachydactyly-cardiac anomaly syndrome · TEBC syndrome

Cystic fibrosis-gastritis-megaloblastic anemia syndrome

CF · Lubani-Al Saleh-Teebi syndrome

Distal deletion 3p syndrome

3p- syndrome · Distal monosomy 3p

Epidermolysis bullosa simplex with anodontia/hypodontia

Kallin syndrome · EBS with anodontia/hypodontia

Frank-Ter Haar syndrome

Ter Haar syndrome

H syndrome

Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome

4H syndrome

IBIDS syndrome

Tay syndrome · Trichothiodystrophy type E

Ichthyosis-hypotrichosis syndrome

Hypotrichosis-congenital ichthyosis syndrome · IFAH syndrome

Isotretinoin-like syndrome

Kawashima syndrome · Microtia-aortic arch syndrome

Kabuki syndrome

Kabuki make-up syndrome · Niikawa-Kuroki syndrome

Kahrizi syndrome

Intellectual disability, Kahrizi type · Intellectual disability-cataract-coloboma-kyphosis syndrome

Kallmann syndrome

Congenital hypogonadotropic hypogonadism with anosmia · Olfacto-genital pathological sequence

Kapur-Toriello syndrome

Cleft lip/palate-facial, eye, heart and intestinal anomalies syndrome

KAT6-related intellectual disability-craniofacial anomalies-cardiac defects syndrome

KAT6A syndrome · Arboleda-Tham syndrome

KBG syndrome

Short stature-facial and skeletal anomalies-intellectual disability-macrodontia syndrome · ANKRD11-related disorder

Kenny-Caffey syndrome

Kenny syndrome

Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome

KLICK syndrome

Keutel syndrome

Pulmonic stenosis-brachytelephalangism-calcification of cartilages syndrome

KID syndrome

KID/HID syndrome · Keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness syndrome

L1 syndrome

CRASH syndrome · Corpus callosum hypoplasia-retardation-adducted thumbs-spasticity-hydrocephalus syndrome

Macrosomia-microphthalmia-cleft palate syndrome

Teebi-Al Saleh-Hassoon syndrome

Monosomy 9p syndrome

9p deletion syndrome · 9p- syndrome

Multiple synostoses syndrome

Deafness-Hermann type symphalangism syndrome · Facio-audio-symphalangism

Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality

5q- syndrome · MDS

N syndrome

Neurogenic scapuloperoneal syndrome, Kaeser type

Kaeser syndrome · Stark-Kaeser syndrome

Otopalatodigital syndrome type 1

OPD I syndrome · OPD syndrome 1

Primary ciliary dyskinesia, Kartagener type

Dextrocardia-bronchiectasis-sinusitis syndrome · Immotile cilia syndrome, Kartagener type

Primary hypergonadotropic hypogonadism-partial alopecia syndrome

Al Awadi-Farag-Teebi syndrome

Prune belly syndrome

Abdominal muscle deficiency syndrome · Eagle-Barret syndrome

Ptosis-vocal cord paralysis syndrome

Tucker syndrome

Retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome

ROSAH syndrome · Optic nerve edema-splenomegaly syndrome

Seizures-scoliosis-macrocephaly syndrome

SSM syndrome

Semicircular canal dehiscence syndrome

SCD syndrome